Table 1.
General population
| Awareness | |||||
| Author (date) | Study design | Population/sample | Intervention | Tools used | Findings |
| Agurs-Collins | Cross-sectional survey | National dataset (HINTS) 3185 participants | N/A | Awareness of DTC testing | 35% were aware of DTC testing |
| Kolor | Cross-sectional | BRFSS participants in Connecticut, Michigan, Oregon, and Utah 21, 788 participants total (over the 3-time points) |
N/A | Awareness of DTC genetic tests, sources of information about DTC genetic tests | Less than 1% reported using a DTC genetic test. Awareness was also pretty low, ranging from 15.8% in Michigan to 29.1% in Oregon. Most commonly cited source for hearing about DTC genetic testing was from TV/Radio, followed by newspaper, magazine, internet. Least widely cited sources were a health professional and family/friends |
| Mai | Cross-sectional | 27,405 Respondents of the National Health Interview Survey in 2000, 2005, and 2010 which had the Cancer Control Module in addition to the regular questionnaire. Narrowed participant pool to those aged 25 and older and excluded those who had not heard of cancer genetic testing | N/A | Awareness and use of genetic tests, family history of cancer in first-degree relatives | From 2000 to 2005 awareness of cancer genetic testing decreased 2.9 percentage points but increased 5. 5 percentage points from 2005 to 2010 |
| Parkman | Cross-sectional survey | National telephone survey BRFSS 21,788 |
N/A | Awareness of genetic nondiscrimination laws | Awareness of nondiscrimination laws is low (less than 20%) but perceived need higher |
| Riesgrafa | Cross-sectional survey | Attendees at rural baseball games (n = 203) |
N/A | Perceptions and attitudes about genetic counseling | Mixed knowledge and attitudes about genetic counseling |
| Attitudes | |||||
| Author (date) | Study design | Population/sample | Intervention | Tools used | Findings |
| Allyse | Cross-sectional Asked hypothetical questionsa | Participants aged 18–44 years old who were invited as part of a survey company N = 1861 | Randomized to 1 of 2 versions of the survey—trisomy 13 and 18 or trisomy 21 | Prenatal testing choices, consideration of termination of pregnancy | 49.8% would consider termination for trisomy 13 and 18 vs. 41.1% for trisomy 21 |
| Dodson | Cross-sectional survey | A probability sample of the general public N = 1526 | N/A | Interest in whole genomic sequencing | Just over half of the population is interested in sequencing |
| Farrell | Cross-sectional survey Asked hypothetical questionsa | Pregnant women presenting for outpatient care at a clinic N = 334 | N/A | Decision-making needs and practices, attitudes about undergoing prenatal genetic testing | Participants expressed interest in incorporating prenatal testing into prenatal care |
| Graves | Cross-sectional online survey | General public N = 900 | N/A | Disease severity and actionability | Both actionability and severity of disease are important when deciding on next steps |
| Higuchi | Cross-sectional Asked hypothetical questionsa | Recruited US adults through Amazon Mechanical Turk n = 1789 | N/A | We investigated the effect of the mock news articles and controls on 3 outcome variables: (1) general support of prenatal testing for Down syndrome, (2) hypothetical personal decision regarding prenatal testing, and (3) beliefs and attitudes about Down syndrome | Those assigned to the mock NIPS article predicted stronger agreement that pregnant women should choose prenatal screening |
| Riesgrafa | Cross-sectional survey | Attendees at rural baseball games (n = 203) |
N/A | Perceptions and attitudes about genetic counseling | Mixed knowledge and attitudes about genetic counseling |
| Sayres | Cross-sectional | Adults 18 and older recruited through the survey company’s (Zoomerang) website N = 3164 | 2 versions of the questionnaire were possible: 1 about trisomy 18 and 13, the other about trisomy 21 | Interest in cffDNA screening, interest in terminating the pregnancy if a positive cffDNA for trisomy 13, 18, or 21 came back | 38% expressed interest in cffDNA screening and 8% expressed interest in both cffDNA and regular screening for trisomy 18 and 13. 42% expressed interest in cffDNA screening for trisomy 21. 52% of those asked about trisomy 13 and 18 would consider pregnancy termination following a positive screening. 44% of trisomy 21 participants would consider terminating the pregnancy after a positive screening |
| Shiloh | Prospective cohort | Recruited from a subset who were involved in the Multiplex Initiative enrollment required that participants be 25–40 years old, Caucasian or African American, and not affected with type 2 diabetes, atherosclerosis, osteoporosis, or cancer. Recruited by telephone N = 294 | N/A | Attitudes assessed using a semantic differential scale | Attitude scores highly correlated with peak scores |
| Steinbach | Cross-sectional survey | A web-based survey of US public N = 84 | N/A | Attitudes about disability, genetic screening, and pregnancy termination | Most respondents supported both the availability of screening and the decision to continue a pregnancy positive for aneuploidy |
| Sweeney | Cross-sectional surveys | General public recruited using telephone selection N = 480 | N/A | Beliefs about cancer and genetics | Participants reported mixed belief accuracy about genetics and positive attitudes about genetics |
| Taber | Cross-sectional survey | Patients recruited at a clinical facility N = 494 | NA | Perceptions of ambiguity about genetics | High ambiguity perceivers had poorer cognitions genetics and were less likely to want to share findings with others |
| Winkelman | Cross-sectional online survey Asked hypothetical questionsa | Public opinion surveying N = 1006 | N/A | Interest in preimplantation genetic testing | About ¾ of respondents were in favor of preimplantation testing |
| Yang | Cross-sectional Asked hypothetical questionsa | Randomly selected patients from the Mayo Clinic Registry. Had to be between ages 50–79 N = 434 | N/A | Modeled after the Health Information National Trends Survey (HINTS). Assessed knowledge of airway and digestive cancers, history of cancers, interest in MUST (noninvasive multi-organ gastrointestinal stool DNA test) | 98% were interested in MUST and would likely use it |
| Knowledge | |||||
| Author (date) | Study design | Population/sample | Intervention | Tools used | Findings |
| Carere 2016 | Online surveys at 3-time points | Customers of DTC companies N = 1042 |
genetic risk estimate, multiple SNPs for each of breast, prostate, colorectal, and lung cancer | Perceived risk | Elevated risk results were significantly associated with positive ΔPR and average risk results with negative ΔPR |
| Haga | Cross-sectional | Recruited from Durham NC through newspaper advertisements, flyers on Duke University’s campus, posters on transit buses, and online advertisements. Must have been at least 18 years old, speak English, and have internet access. No personal history of T2DM and never had a genetic test for T2DM N = 300 | N/A | A short test of functional health literacy for adults, genetic knowledge, used a survey by Morren et al. (2007) to test the future of genetic testing | Increased education positively associated with increased genetic knowledge. 52% were somewhat, and 45% were extremely interested in genetic testing. 51.3% agreed at genetic testing would affect a person’s ability to obtain health insurance |
| Mandelberger | Cross-sectional | Voluntary survey responders set up through the survey agency. Women between the ages of 18 and 45. Had no children OR had one child biologically aged 0–1 N = 428 | N/A | Source of subjects’ knowledge about genetics, personal experience with genetic testing or disease, preferences on genetic testing and counseling | 34.5% of parous women had prenatal counseling by a physician, compared to 11.1% of nulliparous women. Parous women scored significantly higher on genetics knowledge quiz (70.9 vs. 61.9%). 78.1% would prefer to get genetic information from their physician |
| Ostergren | Post-exposure reactions to laboratory reports | People requesting DTC testing N = 1030 | Receiving laboratory reports from testing | Genetic knowledge, comprehension of laboratory reports | High comprehension of reports and knowledge predicted the level of comprehension |
| Schwartz | RCT | Women 21–85 who did not have newly diagnosed or metastatic cancer and lived within a study site catchment area N = 669 | Randomly assigned to usual care or telephone counseling | Breast Cancer Genetic Counselling Knowledge Scale, Decisional Conflict Scale, Genetic counseling satisfaction scale, the impact of event scale, perceived stress scale, short form-12, mental component summary, physical component summary | TC was non-inferior to UC on all outcomes. Post-counseling knowledge score was .03 points higher for TC than UC |
| Wolfe | RCT | Undergraduate women recruited online at two universities in the Midwest and Eastern USA N = 410 | Randomly assigned 1 of 3 conditions: (1) BRCA Gist, the NCI website, or a control tutorial about nutrition | Knowledge of breast cancer, heredity, and genetic testing, Gist comprehension of genetic breast cancer risk, interest in genetic testing, worry, and Pedigree Assessment Tool (PAT) | BRCA Gist participants scored significantly higher than NCI participants, and both scored significantly higher than the control group on total declarative knowledge. BRCA Gist and NCI groups were significantly more accurate in categorizing risk. BRCA Gist participants reported lower levels of interest in genetic testing than NCI or control |
| Yee | RCT | Pregnant women 18 and older between 6 and 26 weeks gestation who spoke English and not having undergone prenatal testing. Exclusions include multiple gestations N = 150 | Assigned to standard care with provider-based counseling or augmented counseling with an interactive computer program | Rapid Estimate of Adult Literacy in Medicine, knowledge test | Women randomized to the interactive computer counseling scored significantly higher on prenatal knowledge than the standard care group |
| Perceived risks | |||||
| Author (date) | Study design | Population/sample | Intervention | Tools used | Findings |
| Boeldt | Longitudinal cohort | Data used from participants in the Scripps Genomic Health Initiative N = 2037 |
N/A | Health Belief Model—the seriousness subsection to elicit what condition they most feared. Perceived control. Speilberger State-Trait Anxiety Inventory. Impact of Events Scale-revised. Godin Leisure-Time Exercise Questionnaire | Most feared diseases: heart attack (males) and Alzheimer’s (females) |
| Carere 2015 | Online surveys at 3-time points | Customers of DTC companies N = 1042 | Genetic risk estimate, multiple SNPs for each of breast, prostate, colorectal, and lung cancer | Perceived risk | Elevated risk results were significantly associated with positive ΔPR and average risk results with negative ΔPR |
aArticle is used in more than one category